Variant Details

Variant: esv3591793

Internal ID

6979121

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:102493185..102494441	hg38	UCSC Ensembl
Inner	chr2:102493185..102494441	hg38	UCSC Ensembl
Outer	chr2:102492894..102494917	hg38	UCSC Ensembl
	chr2:103109644..103110900	hg19	UCSC Ensembl
Inner	chr2:103109644..103110900	hg19	UCSC Ensembl
Outer	chr2:103109353..103111376	hg19	UCSC Ensembl

Cytoband

2q12.1

Allele length

Assembly	Allele length
hg38	1257
hg19	1257

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10598258, essv10598244, essv10598242, essv10598250, essv10598225, essv10598224, essv10598255, essv10598238, essv10598254, essv10598260, essv10598222, essv10598221, essv10598246, essv10598256, essv10598229, essv10598220, essv10598253, essv10598223, essv10598247, essv10598249, essv10598257, essv10598259, essv10598248, essv10598252, essv10598239, essv10598237, essv10598251, essv10598231, essv10598218, essv10598228, essv10598245, essv10598232, essv10598217, essv10598234, essv10598236, essv10598233, essv10598235, essv10598226, essv10598240, essv10598243, essv10598227, essv10598230, essv10598261, essv10598241, essv10598219, essv10598216

Samples

HG02890, HG02496, HG02973, HG03175, HG02433, HG03247, HG02836, HG02769, HG03199, NA19201, HG02756, HG02489, HG03209, HG03556, HG02634, HG03212, HG03045, HG02885, HG02623, NA18908, HG02442, HG03120, HG01171, HG03547, HG01077, HG02555, HG03311, NA19449, HG03202, NA19042, HG02309, NA19308, NA19712, NA19435, HG02923, HG03304, HG01260, NA19360, NA18501, HG03432, NA18876, HG02763, HG02861, NA19129, NA19316, HG03271

Known Genes

SLC9A4

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3591793

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	46
Observed Complex	0
Frequency	n/a